Lessons from two series by physicians and caregivers' self-reported data in DDX3X-related disorders.

ABSTRACT:

Introduction and methods

We report two series of individuals with DDX3X variations, one (48 individuals) from physicians and one (44 individuals) from caregivers.

Results

These two series include several symptoms in common, with fairly similar distribution, which suggests that caregivers' data are close to physicians' data. For example, both series identified early childhood symptoms that were not previously described: feeding difficulties, mean walking age, and age at first words.

Discussion

Each of the two datasets provides complementary knowledge. We confirmed that symptoms are similar to those in the literature and provides more details on feeding difficulties. Caregivers considered that the symptom attention-deficit/hyperactivity disorder were most worrisome. Bot

SUBMITTER: Ruault V 

PROVIDER: S-EPMC10801341 | biostudies-literature | 2024 Jan

REPOSITORIES: biostudies-literature